RFC2
Summary: This gene encodes a member of the activator 1 small subunits family. The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). Replication factor C, also called activator 1, is a protein complex consisting of five distinct subunits. This gene encodes the 40 kD subunit, which has been shown to be responsible for binding ATP and may help promote cell survival. Disruption of this gene is associated with Williams syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene of this gene has been defined on chromosome 2. [provided by RefSeq, Jul 2013].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| replication factor C subunit 2 | MIM:600404 | Ensembl:ENSG00000049541 | HGNC:HGNC:9970 | PA34339 | 7q11.23 |
Gene Categories:
DNA REPAIRGO terms in RFC2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0006260 | DNA replication |
| BP | IBA | GO:0006261 | DNA-dependent DNA replication |
| BP | IBA | GO:0006281 | DNA repair |
| BP | TAS | GO:0006283 | transcription-coupled nucleotide-excision repair |
| BP | TAS | GO:0006296 | nucleotide-excision repair, DNA incision, 5'-to lesion |
| BP | TAS | GO:0006297 | nucleotide-excision repair, DNA gap filling |
| BP | TAS | GO:0019985 | translesion synthesis |
| BP | TAS | GO:0032201 | telomere maintenance via semi-conservative replication |
| BP | TAS | GO:0033683 | nucleotide-excision repair, DNA incision |
| BP | TAS | GO:0042276 | error-prone translesion synthesis |
| BP | TAS | GO:0042769 | DNA damage response, detection of DNA damage |
| BP | TAS | GO:0070987 | error-free translesion synthesis |
| BP | IDA | GO:1900264 | positive regulation of DNA-directed DNA polymerase activity |
| CC | IBA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IBA | GO:0005663 | DNA replication factor C complex |
| CC | IDA | GO:0005663 | DNA replication factor C complex |
| CC | IDA | GO:0031390 | Ctf18 RFC-like complex |
| MF | IBA | GO:0003689 | DNA clamp loader activity |
| MF | IDA | GO:0003689 | DNA clamp loader activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IEA | GO:0019899 | enzyme binding |
| MF | IDA | GO:0043142 | single-stranded DNA-dependent ATPase activity |
Gene expression in normal tissue: RFC2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in RFC2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-110312 | Translesion synthesis by REV1 |
| reactome | R-HSA-110313 | Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template |
| reactome | R-HSA-110314 | Recognition of DNA damage by PCNA-containing replication complex |
| reactome | R-HSA-110320 | Translesion Synthesis by POLH |
| reactome | R-HSA-110373 | Resolution of AP sites via the multiple-nucleotide patch replacement pathway |
| reactome | R-HSA-157579 | Telomere Maintenance |
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-174411 | Polymerase switching on the C-strand of the telomere |
| reactome | R-HSA-174417 | Telomere C-strand (Lagging Strand) Synthesis |
| reactome | R-HSA-176187 | Activation of ATR in response to replication stress |
| reactome | R-HSA-180786 | Extension of Telomeres |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-3700989 | Transcriptional Regulation by TP53 |
| reactome | R-HSA-5633007 | Regulation of TP53 Activity |
| reactome | R-HSA-5651801 | PCNA-Dependent Long Patch Base Excision Repair |
| reactome | R-HSA-5655862 | Translesion synthesis by POLK |
| reactome | R-HSA-5656121 | Translesion synthesis by POLI |
| reactome | R-HSA-5656169 | Termination of translesion DNA synthesis |
| reactome | R-HSA-5685938 | HDR through Single Strand Annealing (SSA) |
| reactome | R-HSA-5685942 | HDR through Homologous Recombination (HRR) |
| reactome | R-HSA-5693532 | DNA Double-Strand Break Repair |
| reactome | R-HSA-5693538 | Homology Directed Repair |
| reactome | R-HSA-5693567 | HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) |
| reactome | R-HSA-5693579 | Homologous DNA Pairing and Strand Exchange |
| reactome | R-HSA-5693607 | Processing of DNA double-strand break ends |
| reactome | R-HSA-5693616 | Presynaptic phase of homologous DNA pairing and strand exchange |
| reactome | R-HSA-5696397 | Gap-filling DNA repair synthesis and ligation in GG-NER |
| reactome | R-HSA-5696398 | Nucleotide Excision Repair |
| reactome | R-HSA-5696399 | Global Genome Nucleotide Excision Repair (GG-NER) |
| reactome | R-HSA-5696400 | Dual Incision in GG-NER |
| reactome | R-HSA-6781827 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) |
| reactome | R-HSA-6782135 | Dual incision in TC-NER |
| reactome | R-HSA-6782210 | Gap-filling DNA repair synthesis and ligation in TC-NER |
| reactome | R-HSA-6804756 | Regulation of TP53 Activity through Phosphorylation |
| reactome | R-HSA-69091 | Polymerase switching |
| reactome | R-HSA-69109 | Leading Strand Synthesis |
| reactome | R-HSA-69186 | Lagging Strand Synthesis |
| reactome | R-HSA-69190 | DNA strand elongation |
| reactome | R-HSA-69239 | Synthesis of DNA |
| reactome | R-HSA-69242 | S Phase |
| reactome | R-HSA-69278 | Cell Cycle, Mitotic |
| reactome | R-HSA-69306 | DNA Replication |
| reactome | R-HSA-69473 | G2/M DNA damage checkpoint |
| reactome | R-HSA-69481 | G2/M Checkpoints |
| reactome | R-HSA-69620 | Cell Cycle Checkpoints |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-73884 | Base Excision Repair |
| reactome | R-HSA-73886 | Chromosome Maintenance |
| reactome | R-HSA-73893 | DNA Damage Bypass |
| reactome | R-HSA-73894 | DNA Repair |
| reactome | R-HSA-73933 | Resolution of Abasic Sites (AP sites) |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| kegg | hsa03030 | DNA replication - Homo sapiens (human) |
| kegg | hsa03420 | Nucleotide excision repair - Homo sapiens (human) |
| kegg | hsa03430 | Mismatch repair - Homo sapiens (human) |
| pid | atr_pathway | ATR signaling pathway |
| pid | fanconi_pathway | Fanconi anemia pathway |
| wikipathways | WP466 | DNA Replication |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in RFC2
CLASSFICATION
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